title: Reversible retinal edema in an infant with neonatal hemochromatosis and liver failure.
abstract: We present a case of bilateral severe retinal edema with subretinal fluid in an infant diagnosed with neonatal hemochromatosis and liver failure. A macular cherry-red spot in each eye mimicked the clinical appearance of many metabolic storage diseases. Both the clinical retinal appearance and the anatomic abnormalities observed on spectral domain optical coherence tomography resolved after successful liver transplant.
authors.affiliation: Department of Ophthalmology, Duke University School of Medicine, Durham, North Carolina 27010, USA.
authors.forename: Ramiro S
authors.initials: RS
authors.lastname: Maldonado
authors.forename: Sharon F
authors.initials: SF
authors.lastname: Freedman
authors.forename: C Michael
authors.initials: CM
authors.lastname: Cotten
authors.forename: Jeffrey M
authors.initials: JM
authors.lastname: Ferranti
authors.forename: Cynthia A
authors.initials: CA
authors.lastname: Toth
mesh_terms: D007839:Functional Laterality; D006432:Hemochromatosis / Q000150:complications* / Q000175:diagnosis / Q000601:surgery; D006801:Humans; D007231:Infant, Newborn; D017093:Liver Failure / Q000150:complications* / Q000175:diagnosis / Q000601:surgery; D016031:Liver Transplantation; D008269:Macular Edema / Q000175:diagnosis / Q000209:etiology* / Q000503:physiopathology*; D008297:Male; D012166:Retinal Hemorrhage / Q000175:diagnosis / Q000209:etiology; D058471:Subretinal Fluid; D041623:Tomography, Optical Coherence